Complex genomic rearrangements: an underestimated cause of rare diseases

• Published in: Trends in genetics Vol. 38; no. 11; pp. 1134 - 1146
• Main Authors: Schuy, Jakob, Grochowski, Christopher M, Carvalho, Claudia M B, Lindstrand, Anna
• Format: Journal Article
• Language: English
• Published: England 01.11.2022
• Subjects: DNA Copy Number Variations - genetics; Gene Rearrangement - genetics; Genome, Human - genetics; Genomics - methods; Humans; Medicin och hälsovetenskap; Rare Diseases - genetics; structural variation; chromosomal abnormalities; clinical diagnostics; genomic disorders; constitutional diseases; whole-genome sequencing

Complex genomic rearrangements (CGRs) are known contributors to disease but are often missed during routine genetic screening. Identifying CGRs requires (i) identifying copy number variants (CNVs) concurrently with inversions, (ii) phasing multiple breakpoint junctions incis, as well as (iii) detect...